ClinVar Miner

List of variants reported as benign for Leigh syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 174
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HGVS dbSNP
NM_000108.5(DLD):c.*1074C>G
NM_000108.5(DLD):c.*1300A>G
NM_000108.5(DLD):c.*1451T>C rs2108223
NM_000108.5(DLD):c.*1688G>A rs8440
NM_000108.5(DLD):c.*18A>T rs8721
NM_000108.5(DLD):c.*207G>A rs4564
NM_000108.5(DLD):c.*28G>T rs17154615
NM_000108.5(DLD):c.*470G>T
NM_000108.5(DLD):c.*487C>T rs4518
NM_000108.5(DLD):c.*648G>A rs57801571
NM_000108.5(DLD):c.*855C>T rs116055514
NM_000108.5(DLD):c.*947G>T rs7777259
NM_000108.5(DLD):c.*978T>C rs2158835
NM_000108.5(DLD):c.1351C>T (p.Leu451=) rs1803921
NM_000108.5(DLD):c.249T>C (p.Val83=) rs2228664
NM_000108.5(DLD):c.439-7T>C rs10263341
NM_000108.5(DLD):c.684+7G>A rs75123588
NM_000108.5(DLD):c.685-14T>A rs80111449
NM_000108.5(DLD):c.777A>G (p.Lys259=) rs1065762
NM_001079866.2(BCS1L):c.1017T>C (p.Pro339=) rs35843327
NM_001079866.2(BCS1L):c.613G>A (p.Val205Ile) rs148278887
NM_001079866.2(BCS1L):c.996C>T (p.Asn332=) rs33946522
NM_001303.3(COX10):c.-112G>A rs6502330
NM_001303.4(COX10):c.*1076T>C rs1050216
NM_001303.4(COX10):c.*1078C>T rs13183
NM_001303.4(COX10):c.*1079G>A
NM_001303.4(COX10):c.*1101C>T rs75165393
NM_001303.4(COX10):c.*1324C>T rs75636595
NM_001303.4(COX10):c.*1385C>T rs1050223
NM_001303.4(COX10):c.*151_*152del rs200239586
NM_001303.4(COX10):c.*297G>A rs8076247
NM_001303.4(COX10):c.*322T>C rs11078233
NM_001303.4(COX10):c.*371A>G rs11078234
NM_001303.4(COX10):c.*438G>C rs75823746
NM_001303.4(COX10):c.*646C>A rs7214082
NM_001303.4(COX10):c.*757T>C rs1802618
NM_001303.4(COX10):c.*831_*832CT[1] rs397763766
NM_001303.4(COX10):c.*974C>A rs2071245
NM_001303.4(COX10):c.-63C>T rs77877576
NM_001303.4(COX10):c.1038G>A (p.Ser346=) rs2230355
NM_001303.4(COX10):c.184A>T (p.Thr62Ser) rs2230351
NM_001303.4(COX10):c.290A>G (p.Tyr97Cys) rs16948986
NM_001303.4(COX10):c.33C>T (p.Arg11=) rs8076787
NM_001303.4(COX10):c.476G>A (p.Arg159Gln) rs2072279
NM_001303.4(COX10):c.504G>A (p.Leu168=) rs2159132
NM_001303.4(COX10):c.682C>T (p.Arg228Cys) rs114521946
NM_001303.4(COX10):c.699A>G (p.Pro233=) rs2230354
NM_001303.4(COX10):c.83C>T (p.Thr28Ile) rs16948978
NM_001303.4(COX10):c.928+12G>A rs200573622
NM_002291.3(LAMB1):c.5225-7C>T rs3213673
NM_002495.4(NDUFS4):c.*46G>A rs567
NM_002495.4(NDUFS4):c.-6A>T rs73754255
NM_002495.4(NDUFS4):c.12G>C (p.Val4=) rs2279516
NM_002495.4(NDUFS4):c.198A>C (p.Gly66=) rs31304
NM_002495.4(NDUFS4):c.312A>G (p.Arg104=) rs31303
NM_002496.4(NDUFS8):c.-45A>C rs4147776
NM_002496.4(NDUFS8):c.199+15T>G rs3115545
NM_003172.3(SURF1):c.-37C>T rs523304
NM_003172.4(SURF1):c.*118T>C
NM_003172.4(SURF1):c.54+9C>G rs587675928
NM_004168.4(SDHA):c.*249T>C
NM_004168.4(SDHA):c.-4A>G rs377134185
NM_004168.4(SDHA):c.1038C>G (p.Ser346=) rs1041949
NM_004168.4(SDHA):c.113A>T (p.Asp38Val) rs34635677
NM_004168.4(SDHA):c.1170C>T (p.Phe390=) rs35277230
NM_004168.4(SDHA):c.1305G>T (p.Leu435=) rs35964044
NM_004168.4(SDHA):c.1664-8G>A rs199790689
NM_004168.4(SDHA):c.1752A>G (p.Ala584=) rs13070
NM_004168.4(SDHA):c.1776T>C (p.His592=) rs1126538
NM_004168.4(SDHA):c.17G>A (p.Gly6Asp) rs187964306
NM_004168.4(SDHA):c.1911C>T (p.Val637=) rs11557098
NM_004168.4(SDHA):c.1932G>A (p.Val644=) rs6961
NM_004168.4(SDHA):c.1969G>A (p.Val657Ile) rs6962
NM_004168.4(SDHA):c.1974G>C (p.Pro658=) rs1042446
NM_004168.4(SDHA):c.309A>G (p.Ala103=) rs1139424
NM_004168.4(SDHA):c.619A>C (p.Arg207=) rs6555055
NM_004168.4(SDHA):c.684T>C (p.Asn228=) rs2115272
NM_004168.4(SDHA):c.771-11A>G rs2288461
NM_004168.4(SDHA):c.822C>T (p.Gly274=) rs34771391
NM_004168.4(SDHA):c.891T>C (p.Pro297=) rs1126417
NM_004544.4(NDUFA10):c.*1189C>T rs66534347
NM_004544.4(NDUFA10):c.*1217A>G
NM_004544.4(NDUFA10):c.*1229C>G rs55998047
NM_004544.4(NDUFA10):c.*1382C>T
NM_004544.4(NDUFA10):c.*1878C>T
NM_004544.4(NDUFA10):c.*1957G>A rs4854069
NM_004544.4(NDUFA10):c.*2133A>G
NM_004544.4(NDUFA10):c.*2202C>T
NM_004544.4(NDUFA10):c.*2309G>A rs1132778
NM_004544.4(NDUFA10):c.*2495C>T rs78395168
NM_004544.4(NDUFA10):c.*2511C>T
NM_004544.4(NDUFA10):c.*2602C>T rs58261980
NM_004544.4(NDUFA10):c.*3075T>G rs7588974
NM_004544.4(NDUFA10):c.*308C>T rs8369
NM_004544.4(NDUFA10):c.*3204C>T rs34277046
NM_004544.4(NDUFA10):c.*3349G>A rs77216981
NM_004544.4(NDUFA10):c.*3450G>A rs7573892
NM_004544.4(NDUFA10):c.*3544C>T
NM_004544.4(NDUFA10):c.*396C>G
NM_004544.4(NDUFA10):c.*407C>T rs74614612
NM_004544.4(NDUFA10):c.*414G>A rs13424612
NM_004544.4(NDUFA10):c.*438C>T rs13396556
NM_004544.4(NDUFA10):c.*631C>T rs10933622
NM_004544.4(NDUFA10):c.105A>G (p.Lys35=) rs2083411
NM_004544.4(NDUFA10):c.194A>G (p.Asn65Ser) rs35715497
NM_004544.4(NDUFA10):c.24G>A (p.Leu8=) rs113012830
NM_004544.4(NDUFA10):c.5C>G (p.Ala2Gly) rs11541494
NM_004544.4(NDUFA10):c.712G>A (p.Glu238Lys) rs35462421
NM_004544.4(NDUFA10):c.771A>G (p.Gln257=) rs13848
NM_004589.4(SCO1):c.*272T>C rs2662956
NM_004589.4(SCO1):c.*310C>T rs2662957
NM_004589.4(SCO1):c.*320= rs2040570
NM_004589.4(SCO1):c.*722C>G rs7512
NM_004589.4(SCO1):c.172C>T (p.Pro58Ser) rs1802083
NM_004589.4(SCO1):c.297A>G (p.Ala99=) rs11538237
NM_004589.4(SCO1):c.594A>G (p.Pro198=) rs2271228
NM_005006.7(NDUFS1):c.*158T>C rs3770989
NM_005006.7(NDUFS1):c.*336G>T rs1044120
NM_005006.7(NDUFS1):c.*399G>A rs77000728
NM_005006.7(NDUFS1):c.*457T>A rs4147728
NM_005006.7(NDUFS1):c.*53T>G
NM_005006.7(NDUFS1):c.*574T>G
NM_005006.7(NDUFS1):c.*733A>G rs6707707
NM_005006.7(NDUFS1):c.-47C>G rs4147707
NM_005006.7(NDUFS1):c.-64T>C
NM_005006.7(NDUFS1):c.1251A>G (p.Arg417=) rs1801318
NM_005006.7(NDUFS1):c.1393-7T>A
NM_005006.7(NDUFS1):c.414T>C (p.Asp138=) rs11548670
NM_005006.7(NDUFS1):c.966G>T (p.Ala322=) rs1127566
NM_007103.4(NDUFV1):c.*79C>T rs76839099
NM_007103.4(NDUFV1):c.-66G>A rs73490568
NM_007103.4(NDUFV1):c.1056T>C (p.Ala352=) rs11227859
NM_007103.4(NDUFV1):c.549C>G (p.Gly183=) rs10896187
NM_015960.3(CUTC):c.61+237T>G rs2281636
NM_015960.3(CUTC):c.61+75G>A rs2231675
NM_020354.5(ENTPD7):c.*5165G>A rs2300983
NM_020354.5(ENTPD7):c.*5463T>G rs1056844
NM_024407.5(NDUFS7):c.408+10G>T rs2074896
NM_024407.5(NDUFS7):c.68C>T (p.Pro23Leu) rs1142530
NM_078470.6(COX15):c.*1126T>C rs2231687
NM_078470.6(COX15):c.*2649G>A rs1128642
NM_078470.6(COX15):c.*3417T>C rs10883407
NM_078470.6(COX15):c.664C>T (p.Arg222Cys) rs2231682
NM_133259.3(LRPPRC):c.-45G>A rs11124961
NM_133259.4(LRPPRC):c.*1088G>C rs79225555
NM_133259.4(LRPPRC):c.*1335T>C rs76970610
NM_133259.4(LRPPRC):c.*1343G>C rs75002669
NM_133259.4(LRPPRC):c.*1371C>T rs111381413
NM_133259.4(LRPPRC):c.*1665C>T rs1139250
NM_133259.4(LRPPRC):c.*2041C>T rs7581308
NM_133259.4(LRPPRC):c.*2176A>T rs73924082
NM_133259.4(LRPPRC):c.*556A>T rs1136998
NM_133259.4(LRPPRC):c.*734A>G
NM_133259.4(LRPPRC):c.*825A>G rs17031753
NM_133259.4(LRPPRC):c.-11A>G rs188424940
NM_133259.4(LRPPRC):c.1068A>G (p.Gln356=) rs4953042
NM_133259.4(LRPPRC):c.1432A>G (p.Thr478Ala) rs35035668
NM_133259.4(LRPPRC):c.1491A>T (p.Glu497Asp) rs571886021
NM_133259.4(LRPPRC):c.1529C>G (p.Ala510Gly) rs115693730
NM_133259.4(LRPPRC):c.1677+11C>G rs58811869
NM_133259.4(LRPPRC):c.1888C>T (p.Leu630=) rs35881858
NM_133259.4(LRPPRC):c.2325A>G (p.Lys775=) rs139634347
NM_133259.4(LRPPRC):c.246G>A (p.Gln82=) rs6741066
NM_133259.4(LRPPRC):c.2481A>G (p.Pro827=) rs115993634
NM_133259.4(LRPPRC):c.2562A>G (p.Val854=) rs4494798
NM_133259.4(LRPPRC):c.3570-3C>T rs35113761
NM_133259.4(LRPPRC):c.3595A>G (p.Asn1199Asp) rs113974315
NM_133259.4(LRPPRC):c.3900+14C>T rs3795859
NM_133259.4(LRPPRC):c.3900+15C>T rs76850904
NM_133259.4(LRPPRC):c.41C>G (p.Ala14Gly) rs114205971
NM_174889.4(NDUFAF2):c.-97A>G rs158922
NM_174889.5(NDUFAF2):c.300A>T (p.Ile100=) rs191388646
NM_174889.5(NDUFAF2):c.462T>C (p.Phe154=) rs77878573
NM_174889.5(NDUFAF2):c.60G>A (p.Lys20=) rs158921

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